摘要:

Recent research has focused on the rapid detection of new LDL receptor gene variants and large scale screening for known mutations. Whether the nature of the mutation in the LDL receptor gene in familial hypercholesterolaemia determines clinical variability has been examined, as well as the potential value of detecting mutation carriers for clinical practice. There is also evidence that some patients with clinical familial hypercholesterolaemia do not have detectable defects in the LDL receptor or apolipoprotein B. Curr Opin Lipidol 9:141–147. © 1998 Rapid Science Ltd

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

摘要:

Members of the LDL receptor gene family mediate cellular uptake of various extracellular ligands, including lipoprotein particles. Ligand interactions with these receptors can be antagonized by a 39 kDa receptor‐associated protein. Recent biochemical, cellular, and genetic studies have shown that receptor‐associated protein is a molecular chaperone/escort protein for LDL receptor‐related protein, a member of the LDL receptor gene family that binds multiple ligands. These studies indicate that receptor‐associated protein interacts with LDL receptor‐related protein at multiple sites and assists the proper folding and disulfide bond formation of LDL receptor‐related protein within the endoplasmic reticulum. Following the completion of folding, receptor‐associated protein remains associated with the receptor during its subsequent trafficking along the early secretory pathway, thereby preventing premature ligand interaction with the receptor. The ability of receptor‐associated protein to universally inhibit ligand interactions with members of the LDL receptor gene family underscores the use of this protein as a tool in the study of ligand–receptor interactions. Curr Opin Lipidol 9:149–155. © 1998 Rapid Science Ltd

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID

ISSN:0957-9672    

出版商:OVID    

年代:1998

数据来源: OVID